| Entrez gene ID | | 8912 |
|
| Official gene symbol | | CACNA1H |
|
| Full name | | calcium channel, voltage-dependent, T type, alpha 1H subunit |
|
| Aliases | | ,CACNA1HB,Cav3.2,ECA6,EIG6,FLJ90484, |
|
| Gene summary | | This gene encodes a T-type member of the alpha-1 subunit family, a protein in the voltage-dependent calcium channel complex. Calcium channels mediate the influx of calcium ions into the cell upon membrane polarization and consist of a complex of alpha-1, alpha-2/delta, beta, and gamma subunits in a 1:1:1:1 ratio. The alpha-1 subunit has 24 transmembrane segments and forms the pore through which ions pass into the cell. There are multiple isoforms of each of the proteins in the complex, either encoded by different genes or the result of alternative splicing of transcripts. Alternate transcriptional splice variants, encoding different isoforms, have been characterized for the gene described here. Studies suggest certain mutations in this gene lead to childhood absence epilepsy (CAE). [provided by RefSeq] |
|
| Location | | Chromosome: 16 Locus: 16p13.3 |
|
| Gene position | | 1203241 - 1271772 Map Viewer |
|
| Gene orientation | | plus |
|
| Gene size | | 68532 bp |
|
| Gene sequence |
| |
|
| OMIM ID | | 607904 |
|
|
|
